Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454818A>G , CM000676.2:g.20454818A>G | GRCh38 |
| NC_000014.8:g.20922977A>G , CM000676.1:g.20922977A>G | GRCh37 |
| NC_000014.7:g.19992817A>G | NCBI36 |
| NG_008718.1:g.4688A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.8:c.-135T>C | ENSP00000206542.4:n.-135T>C | |
| ENST00000556252.1:n.236T>C | ||
| ENST00000556439.1:n.272T>C | ||
| NM_017807.3:c.-135T>C | NP_060277.1:n.-135T>C | |
| XM_011536930.1:c.-196T>C | XP_011535232.1:n.-196T>C | |
| XM_011536931.1:c.-431T>C | XP_011535233.1:n.-431T>C |